About this project

Cystinosis is a systemic disorder with the first clinical manifestations typically originating from a dysfunction of a specific functional part of the kidney called the renal tubule. As such, cystinosis is part of a larger group of rare Mendelian disorders called tubulopathies.

The tubules are responsible for providing overall body homeostasis, adjusting reabsorption and secretion of water and solutes to match intake and environmental stressors, so that overall balance is maintained. Consequently, tubulopathies are characterised by specific defects in homeostasis, such as volume, electrolyte and acid-base regulation, with potentially severe consequences.

The vast majority of tubulopathies in childhood are inherited in Mendelian fashion. Unfortunately, there is currently no specific treatment for most of these disorders.

In this project we propose to develop kidney cell models and organoids from cells (urine and/or blood derived) from patients with various tubulopathies, including cystinosis that can be used for drug screening and testing, but also as functional assays for specific genetic variants. Models will be characterised by assessing expression of functional markers, as well as functional assays.

Lead Supervisor: Detlef Böckenhauer